| Gene Information | |
|---|---|
| Gene Name | HAP1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 318 |
| Protein Names | DNA-(apurinic or apyrimidinic site) endonuclease (EC 3.1.11.2) (APEX nuclease) (APEN) (Apurinic-apyrimidinic endonuclease 1) (AP endonuclease 1) (APE-1) (REF-1) (Redox factor-1) [Cleaved into: DNA-(apurinic or apyrimidinic site) endonuclease, mitochondrial] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 950 ( ENSG00000173805 ) |
| Evolutionary Stage | Mammalia |
| AlphaFoldDB | P27695 |
| Gene Card | APEX1 |
| Uniprot ID | P27695 |
| Pfam | PF03372 |
| In ASD | yes |
| Allosteric Prediction | yes (0.482107023) |
| Ortholog in Animals | Alpaca_ HAP1 ( ortholog_one2one ) Dog_ HAP1 ( ortholog_one2one ) Mouse_ Hap1 ( ortholog_one2one ) Pig_ HAP1 ( ortholog_one2one ) Rat_ Hap1 ( ortholog_one2one ) |
| Ohnologs | TRAK2, TRAK1 |
| Paralogs | TRAK1, TRAK2 |
| Tissue | brain, stomach, hypothalamus |
| Tissue Specificity | NA |
| Pharmacological Animal Models | 0.015597(Chimpanzee);0.033983(Mouse);NULL(Rat);0.044444(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 1BIX (X-ray 2.20A ) 1CQG (NMR - ) 1CQH (NMR - ) 1DE8 (X-ray 2.95A ) 1DE9 (X-ray 3.00A ) 1DEW (X-ray 2.65A ) 1E9N (X-ray 2.20A ) 1HD7 (X-ray 1.95A ) 2ISI (X-ray 2.76A ) 2O3H (X-ray 1.90A ) 3U8U (X-ray 2.15A ) 4IEM (X-ray 2.39A ) 4LND (X-ray 1.92A ) 4QH9 (X-ray 2.18A ) 4QHD (X-ray 1.65A ) 4QHE (X-ray 1.40A ) 5CFG (X-ray 1.80A ) 5DFF (X-ray 1.57A ) 5DFH (X-ray 1.95A ) 5DFI (X-ray 1.63A ) 5DFJ (X-ray 1.85A ) 5DG0 (X-ray 1.80A ) 5WN0 (X-ray 2.60A ) 5WN1 (X-ray 2.30A ) 5WN2 (X-ray 2.29A ) 5WN3 (X-ray 2.00A ) 5WN4 (X-ray 2.10A ) 5WN5 (X-ray 2.20A ) 6BOQ (X-ray 1.96A ) 6BOR (X-ray 1.84A ) 6BOS (X-ray 2.30A ) 6BOT (X-ray 2.30A ) 6BOU (X-ray 2.54A ) 6BOV (X-ray 1.98A ) 6BOW (X-ray 1.59A ) 6MK3 (X-ray 1.48A ) 6MKK (X-ray 1.44A ) 6MKM (X-ray 1.67A ) 6MKO (X-ray 2.09A ) 6P93 (X-ray 2.10A ) 6P94 (X-ray 2.09A ) 6W0Q (X-ray 1.89A ) 6W2P (X-ray 1.94A ) 6W3L (X-ray 2.59A ) 6W3N (X-ray 2.69A ) 6W3Q (X-ray 2.49A ) 6W3U (X-ray 2.40A ) 6W43 (X-ray 1.99A ) 6W4I (X-ray 2.20A ) 6W4T (X-ray 2.77A ) 7LPG (X-ray 2.08A ) 7LPH (X-ray 1.99A ) 7LPI (X-ray 2.05A ) 7LPJ (X-ray 2.56A ) 7MCR (X-ray 1.90A ) 7MEV (X-ray 1.60A ) 7SUV (X-ray 1.99A ) 7SVB (X-ray 2.24A ) 7U50 (EM 3.40A ) |
| DBSNP | rs1048945 rs2307486 rs1130409 |
| Subcellular location [CC] | Nucleus. Nucleus, nucleolus. Nucleus speckle. Endoplasmic reticulum. Cytoplasm. Note=Detected in the cytoplasm of B-cells stimulated to switch (By similarity). Colocalized with SIRT1 in the nucleus. Colocalized with YBX1 in nuclear speckles after genotoxic stress. Together with OGG1 is recruited to nuclear speckles in UVA-irradiated cells. Colocalized with nucleolin and NPM1 in the nucleolus. Its nucleolar localization is cell cycle dependent and requires active rRNA transcription. Colocalized with calreticulin in the endoplasmic reticulum. Translocation from the nucleus to the cytoplasm is stimulated in presence of nitric oxide (NO) and function in a CRM1-dependent manner, possibly as a consequence of demasking a nuclear export signal (amino acid position 64-80). S-nitrosylation at Cys-93 and Cys-310 regulates its nuclear-cytosolic shuttling. Ubiquitinated form is localized predominantly in the cytoplasm. {ECO:0000250}.; [DNA-(apurinic or apyrimidinic site) endonuclease, mitochondrial]: Mitochondrion. Note=The cleaved APEX2 is only detected in mitochondria (By similarity). Translocation from the cytoplasm to the mitochondria is mediated by ROS signaling and cleavage mediated by granzyme A. Tom20-dependent translocated mitochondrial APEX1 level is significantly increased after genotoxic stress. {ECO:0000250}. |
| Mouse PG classification | NA |
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